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Author

Isabella Borg

Observed names: Borg, Isabella, I Borg, I. Borg
ORCID: 0000-0003-0639-3055
Observed ORCID: 0000-0003-0639-3055
OpenAlex ID: A5073193231
The Genomic Architecture of Hidradenitis Suppurativa—A Systematic Review
2022 · Nikolai Paul Pace, Dillon Mintoff, et al. · Frontiers in Genetics · 122
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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
2005 · Isabella Borg, Kristine Freude, et al. · European Journal of Human Genetics · 96
A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
2002 · I Borg, M Squire, et al. · Journal of Medical Genetics · 49
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Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.
1995 · I Borg, J D Delhanty, et al. · Journal of Medical Genetics · 43
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The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review
2021 · Dillon Mintoff, Isabella Borg, et al. · Vaccines · 30
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Wide disparity of clinical genetics services and EU rare disease research funding across Europe
2015 · Sally Ann Lynch, Isabella Borg · Journal of Community Genetics · 30
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NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa
2023 · Dillon Mintoff, Nikolai Paul Pace, et al. · JAMA Dermatology · 24
Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date
2021 · Kirsty Scicluna, Melissa M. Formosa, et al. · Clinical Genetics · 24
Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome
2016 · A. Putoux, A. Alqahtani, et al. · Clinical Genetics · 22
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Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome
2017 · Nikolai Paul Pace, Frideriki Maggouta, et al. · Molecular Cytogenetics · 16
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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study
2023 · Kati Koido, Charlotta Ingvoldstad Malmgren, et al. · European Journal of Medical Genetics · 15
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Serum Immunoglobulin G Is a Marker of Hidradenitis Suppurativa Disease Severity
2022 · Dillon Mintoff, Isabella Borg, et al. · International Journal of Molecular Sciences · 15
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Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease
2019 · Andrea Sodi, Chiara Lenzetti, et al. · Journal of Ophthalmology · 14
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Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa—An in-silico study
2022 · Dillon Mintoff, Nikolai P. Pace, et al. · Frontiers in Genetics · 12
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A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study
2021 · D. Mintoff, N.P. Pace, et al. · Clinical and Experimental Dermatology · 11
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
2020 · Natália Oliva-Teles, Maria Chiara de Stefano, et al. · International Journal of Environmental Research and Public Health · 11
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Two novel GJA1 variants in oculodentodigital dysplasia
2019 · Nikolai P. Pace, Valerie Benoit, et al. · Molecular Genetics & Genomic Medicine · 11
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Fundus phenotype in retinitis pigmentosa associated with EYS mutations
2018 · Dario Pasquale Mucciolo, Andrea Sodi, et al. · Ophthalmic Genetics · 10
NOD2 at the interface of hidradenitis suppurativa and inflammatory bowel disease—An in silico analysis
2023 · Dillon Mintoff, Isabella Borg, et al. · Experimental Dermatology · 7
A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
2020 · Nikolai Paul Pace, Michael Pace Bardon, et al. · Molecular Genetics & Genomic Medicine · 6
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Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine
2022 · Dillon Mintoff, Nikolai P Pace, et al. · Clinical and Experimental Dermatology · 5
HB Setif [α94(GI)ASPàTYR] in Malta
1997 · I. Borg, M. Valentino, et al. · Hemoglobin · 5
A novel SPINK5 donor splice site variant in a child with Netherton syndrome
2021 · Dillon Mintoff, Isabella Borg, et al. · Molecular Genetics & Genomic Medicine · 3
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A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia
2020 · D. Mintoff, N. P. Pace, et al. · Clinical and Experimental Dermatology · 3
Unresolved ethical issues of genetic counseling and testing in clinical psychiatry
2025 · Julia Perry, Eline Bunnik, et al. · Psychiatric Genetics · 2
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Works count: 35
Citation count: 588
H-index: 13
I10-index: 18
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